ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys)

dbSNP: rs1554121202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260777 SCV001437869 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
GeneDx RCV003153963 SCV003842597 pathogenic not provided 2022-09-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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